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Table 1 List of genes and known functions of the top 20 genes mutated less than expected

From: Discovery of new therapeutic targets in ovarian cancer through identifying significantly non-mutated genes

\ Gene name Ratio Obs. rank Sim. rank Annotation Loc Function Refs
1 TRAPPC9 0.07 5891 2 trafficking protein particle complex 9 PM NF-kappa-B signaling [19]
2 LPP 0.11 3611 11 LIM domain containing preferred translocation partner in lipoma NU Localized at focal adhesions and cell–cell contact sites; shuttles to the nucleus where it affects transcription [20,21,22,23,24,25]
3 ELFN2 0.12 4446 13 extracellular leucine-rich repeat and fibronectin type III domain containing 2 UK Unknown
4 ANKLE2 0.13 3107 16 ankyrin repeat and LEM domain containing 2 NU Mitosis [26, 27]
5 SHROOM3 0.14 4931 28 shroom family member 3 CY Regulating cell shape in certain tissues [28,29,30,31,32,33]
6 PGR 0.14 3798 27 progesterone receptor NU Regulation of gene expression and affect cellular proliferation and differentiation in target tissues [34,35,36,37]
7 MAP1B 0.15 6400 39 microtubule-associated protein 1B CY Microtubule assembly [38,39,40,41,42,43,44]
8 OBSL1 0.15 5649 38 obscurin-like 1 PM Links internal cytoskeleton to cell membrane [45,46,47]
9 CELSR1 0.15 6483 57 cadherin, EGF LAG seven-pass G-type receptor 1 PM Involved in cell adhesion [48, 49]
10 DBNL 0.16 5544 50 drebrin-like CY For organ development and immune response. Promote proliferation, colony formation, migration, invasion [50,51,52,53]
11 PHF21A 0.16 3552 36 PHD finger protein 21A NU Repression of neuron-specific genes through repressor element-1 or neural restrictive silencer [54,55,56]
12 TRPV6 0.16 5245 48 transient receptor potential cation channel, subfamily V, member 6 PM Calcium channels required for assembly and regulation [57,58,59,60,61,62,63]
13 VEGFA 0.16 4406 47 vascular endothelial growth factor A ES Angiogenesis, endothelial cell growth, cell migration, apoptosis [64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84]
14 GRIP2 0.17 3298 51 glutamate receptor interacting protein 2 OM Bind AMPA receptors and target AMPA receptors to synapses [85, 86]
15 RALGDS 0.17 4874 61 ral guanine nucleotide dissociation stimulator CY effectors of Ras-related GTPases that participate in signaling [87, 88] [89]
16 CCDC144A 0.17 4302 58 coiled-coil domain containing 144A UK Unknown
17 RAI1 0.17 3399 55 retinoic acid induced 1 CY associated with severity and response to medication in schizophrenia patients [90,91,92]
18 TBC1D2B 0.17 3106 52 TBC1 domain family, member 2B UK Unknown
19 SMG1 0.17 5523 82 smg-1 homolog phosphatidylinositol 3-kinase-related kinase CY Involve in tumorigenesis as a new tumor suppressor (93,94,95)
20 BRWD1 0.18 4873 85 bromodomain and WD repeat domain containing 1 NU Unknown
  1. Ratio: The ratio of the observed number of mutations to the simulated number of mutations. Obs. Rank: observed rank with 1 being the most mutated in the TCGA data. Sim. Rank: simulated rank with 1 being the most mutated in simulations.
  2. Loc.: cellular localization, PM: Plasma membrane, NU: Nuclear, UK: Unknown, CY: Cytoplasm, ES: Extracellular space